ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
FOXC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
516 | 653 | |
BPHL | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
18 | 78 | |
C6orf201 | - | - | - |
GRCh38 GRCh37 |
2 | 68 |
ECI2 | - | - |
GRCh38 GRCh37 |
10 | 74 | |
EXOC2 | - | - |
GRCh38 GRCh37 |
46 | 165 | |
FAM217A | - | - | - |
GRCh38 GRCh37 |
45 | 92 |
FAM50B | - | - |
GRCh38 GRCh37 |
20 | 66 | |
FOXF2 | - | - |
GRCh38 GRCh37 |
41 | 115 | |
FOXQ1 | - | - |
GRCh38 GRCh37 |
50 | 122 | |
GMDS | - | - |
GRCh38 GRCh37 |
25 | 118 |
There are 16 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 27, 2015 | RCV000510370.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024